A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126549



Internal ID18917225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:48529561..48530361hg38UCSC Ensembl
Outerchr2:48756700..48757500hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984803
SamplesKWS1
Known GenesSTON1, STON1-GTF2A1L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126549
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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